QuyenAnhDE/medical huggingface dataset:
dyskinetic cerebral palsy
Definition: A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
Synonyms: Athetoid Dyskinetic Cerebral Palsy
mixed cerebral palsy
Definition: A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing.
congenital bile acid synthesis defect
Synonyms: cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Birk-Barel syndrome
Synonyms: BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
Definition: An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations.
Synonyms: Jabs syndrome
blue cone monochromacy
Definition: An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Definition: An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
Synonyms: BORJESON SYNDROME
Athabaskan brainstem dysgenesis syndrome
Synonyms: NAVAJO BRAINSTEM SYNDROME
Bothnia retinal dystrophy
Synonyms: Vasterbotten dystrophy
Bowen-Conradi syndrome
small cell carcinoma
Definition: A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.
Synonyms: Small cell carcinoma, intermediate cell (morphologic abnormality)
organ system cancer
Definition: A cancer that is classified based on the organ it starts in.
cell type cancer
Definition: A cancer that is classified by the type of cell from which it is derived.
anal canal cancer
Definition: A large intestine cancer that is located_in the terminal part of the large intestine.
brachydactyly-syndactyly syndrome
brachyolmia
Definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
Synonyms: brachyrachia
branchiooculofacial syndrome
Definition: An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
Brody myopathy
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere syndrome
malignant pleural solitary fibrous tumor
fetal alcohol spectrum disorder
Definition: A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.
chorioamnionitis
Definition: A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
funisitis
Definition: A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord.
Dent disease
Definition: A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.
Synonyms: Dent's disease
cardiomyopathy
Definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Synonyms: Cardiomyopathies
electroclinical syndrome
Definition: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
Synonyms: electro-clinical syndrome
neonatal period electroclinical syndrome
Definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. [JA:Epilepsy Genetics Kiel, url:http://www.ncbi.nlm.nih.gov/pubmed/20196795, url:http://www.ncbi.nlm.nih.gov/pubmed/22182677]
infancy electroclinical syndrome
Definition: An electroclinical syndrome with onset in infancy occurring between birth and one year of age. [JA:Epilepsy Genetics Kiel, url:http://www.ncbi.nlm.nih.gov/pubmed/20196795]
childhood electroclinical syndrome
Definition: An electroclinical syndrome with onset in childhood between one and 12 years of age. [JA:Epilepsy Genetics Kiel, url:http://www.ncbi.nlm.nih.gov/pubmed/20196795]
adolescence-adult electroclinical syndrome
Definition: An electroclinical syndrome with onset in adolescence and adulthood. [JA:Epilepsy_Genetics_Kiel, url:http://www.ncbi.nlm.nih.gov/pubmed/20196795]
variable age at onset electroclinical syndrome
nonsyndromic epilepsy
early onset absence epilepsy
Definition: A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. [JA:Epilepsy Genetics Kiel, url:http://www.ilae-epilepsy.org]
Ohtahara syndrome
Definition: A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Synonyms: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
3-Methylcrotonyl-CoA carboxylase deficiency
Definition: An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
Synonyms: BMCC deficiency
aceruloplasminemia
Definition: An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
AGAT deficiency
Definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
fatal infantile encephalocardiomyopathy
Definition: A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
Synonyms: fatal infantile COX deficiency
methylmalonic aciduria and homocystinuria type cblC
Definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.
Synonyms: Cobalamin C deficiency
methylmalonic aciduria and homocystinuria type cblD
Definition: A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.
Synonyms: Cobalamin D deficiency
methylmalonic aciduria and homocystinuria type cblF
Definition: A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl).
Synonyms: Cobalamin F deficiency
vitamin metabolic disorder
Definition: An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.
cerebral folate receptor alpha deficiency
Definition: A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
ornithine translocase deficiency
Definition: An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.
Synonyms: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
serine deficiency
Definition: An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
PHGDH deficiency
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.
Synonyms: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
PSAT deficiency
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
Synonyms: Phosphoserine aminotransferase deficiency
PSPH deficiency
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
Synonyms: PSPHD
tyrosinemia type II
Definition: A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.
Synonyms: Richner-Hanhart syndrome
tyrosinemia type I
Definition: A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.
Synonyms: hepatorenal tyrosinemia
tyrosinemia type III
Definition: A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
glycogen metabolism disorder
Definition: A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen.
neutral lipid storage disease
Definition: A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
Synonyms: Chanarin-Dorfman syndrome
coenzyme Q10 deficiency disease
Definition: A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
Synonyms: COENZYME Q10 DEFICIENCY, PRIMARY
vitamin B12 deficiency
Definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
Synonyms: hypocobalaminemia
methylmalonic aciduria and homocystinuria type cblE
methylmalonic aciduria and homocystinuria type cblG
congenital intrinsic factor deficiency
Definition: A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
Synonyms: hereditary intrinsic factor deficiency
X-linked disease
Definition: A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
autosomal dominant disease
Definition: An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
autosomal recessive disease
Definition: An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
Y-linked disease
Definition: A monogenic disease that has_material_basis_in muations on the Y chromosome.
autosomal genetic disease
Definition: A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes.
Qazi Markouizos syndrome
Definition: A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
Synonyms: Qazi-Markouizos syndrome
alcohol dependence
Synonyms: alcoholism
nicotine dependence
Synonyms: tobacco use disorder
mature T-cell and NK-cell lymphoma
Definition: A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
Synonyms: NK-T cell lymphoma
anaplastic large cell lymphoma
Definition: A non-Hodgkin lymphoma involving aberrant T-cells.
diffuse large B-cell lymphoma
Definition: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
mantle cell lymphoma
Definition: A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
lymphoplasmacytic lymphoma
Definition: A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells.
Synonyms: Waldenström's macroglobulinemia
marginal zone B-cell lymphoma
Definition: A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue.
Synonyms: marginal zone lymphoma
peripheral T-cell lymphoma
Definition: A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.
splenic marginal zone lymphoma
Definition: A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp.
T-cell large granular lymphocyte leukemia
Definition: A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
Synonyms: Large granular lymphocytic leukemia
amyotrophic lateral sclerosis type 8
Definition: A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20.
Synonyms: amyotrophic lateral sclerosis 8
cerebellar ataxia
Definition: A cerebellar disease characterized by ataxia originating in the cerebellum.
ataxia with oculomotor apraxia type 1
ataxia with oculomotor apraxia type 2
Batten disease
Synonyms: juvenile neuronal ceroid lipofuscinosis
deafness dystonia syndrome
Definition: A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems.
Synonyms: Mohr-Tranebjaerg Syndrome
metabolic acidosis
Definition: A lactic acidosis that has_material_basis_in high levels of acid.
myotonic dystrophy type 2
Definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
Synonyms: proximal myotonic myopathy
X-linked myopathy with excessive autophagy
Synonyms: XMEA
paramyloidosis
adenylosuccinase lyase deficiency
ARC syndrome
Definition: A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..
Synonyms: Arthrogryposis-renal dysfunction-cholestasis
Armfield syndrome
Synonyms: MRXSA
neuroacanthocytosis
chorea-acanthocytosis
midface dysplasia
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Definition: A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.
Synonyms: MC5DN1
N syndrome
Synonyms: NSX
polycystic liver disease
phaeochromocytoma
spastic ataxia 1
paraganglioma
Synonyms: chemodectoma
rapadilino syndrome
schneckenbecken dysplasia
non-syndromic X-linked intellectual disability
Definition: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
Synonyms: non-specific X-linked mental retardation
Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Synonyms: JBTS
Meckel syndrome
Definition: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Synonyms: Meckel-Gruber syndrome
hydrolethalus syndrome
Definition: An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Synonyms: Salonen-Herva-Norio syndrome
Opitz-GBBB syndrome
Definition: A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
Synonyms: Opitz G/BBB Syndrome
Ogden syndrome
Definition: An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys.
Synonyms: X-linked Malformation and Infantile Lethality Syndrome
Zollinger-Ellison Syndrome
Definition: A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach.
secondary progressive multiple sclerosis
Definition: A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks.
Synonyms: SPMS
primary progressive multiple sclerosis
Definition: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
Synonyms: Primary-progressive MS
progressive relapsing multiple sclerosis
Definition: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.
Synonyms: Progressive-relapsing MS
iridogoniodysgenesis syndrome
Definition: An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
Synonyms: iridogoniodysgenesis type 2
juvenile polyposis syndrome
Definition: An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.
proximal symphalangism
Definition: An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Synonyms: Cushing's symphalangism
tarsal-carpal coalition syndrome
Definition: An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
fibular hypoplasia and complex brachydactyly
Definition: An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly.
Synonyms: Du Pan syndrome
persistent mullerian duct syndrome
Definition: A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male.
multiple cutaneous and mucosal venous malformations
Definition: An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions.
short QT syndrome
Definition: An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.
multiple synostoses syndrome
Definition: A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance.
cone dystrophy
Definition: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Synonyms: retinal cone dystrophy
achalasia microcephaly syndrome
Definition: An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).
Synonyms: ACHALASIA-MICROCEPHALY SYNDROME
peroxisomal acyl-CoA oxidase deficiency
Definition: A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Synonyms: Peroxisomal acyl-coenzyme A oxidase
cerebral creatine deficiency syndrome
guanidinoacetate methyltransferase deficiency
Synonyms: GAMT deficiency
creatine transporter deficiency
Synonyms: SLC6A8 deficiency
androgenic alopecia
Synonyms: androgenetic alopecia
Ehlers-Danlos syndrome progeroid type
Definition: An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
Synonyms: xylosylprotein 4-beta-galactosyltransferase deficiency RELATED []
glioblastoma classical subtype
Definition: A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations.
glioblastoma proneural subtype
Definition: A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification.
glioblastoma mesenchymal subtype
Definition: A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene.
glioblastoma neural subtype
Definition: A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons.
Kahrizi syndrome
Definition: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
mucopolysaccharidosis IV
mucopolysaccharidosis IX
Definition: A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
biotin deficiency
Definition: A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth.
Synonyms: B7 deficiency
congenital adrenal hyperplasia
Definition: A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
Synonyms: lipoid CAH